Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Palmd'

266488

Institutional Source

Beutler Lab

Gene Symbol

Palmd

Ensembl Gene

ENSMUSG00000033377

Gene Name

palmdelphin

Synonyms

4631423C22Rik, PALML

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116918258-116968987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116923751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 366 (R366G)

Ref Sequence

ENSEMBL: ENSMUSP00000113107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040097] [ENSMUST00000119557] [ENSMUST00000143611]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040097
AA Change: R366G

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: R366G

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:Paralemmin	65	512	3.6e-57	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119557
AA Change: R366G

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: R366G

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:Paralemmin	64	278	6.6e-14	PFAM
Pfam:Paralemmin	323	515	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143611

SMART Domains

Protein: ENSMUSP00000122725
Gene: ENSMUSG00000033377

Domain	Start	End	E-Value	Type
coiled coil region	4	94	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,599,698 (GRCm38)	V51A	probably damaging	Het
Adgb	C	T	10: 10,431,281 (GRCm38)		probably null	Het
Als2	A	G	1: 59,211,137 (GRCm38)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,615,682 (GRCm38)	R306H	probably damaging	Het
Arhgef10	A	G	8: 14,975,666 (GRCm38)	I459V	probably benign	Het
Arhgef10	T	C	8: 14,975,093 (GRCm38)		probably null	Het
Armc2	C	T	10: 41,966,700 (GRCm38)		probably null	Het
Atp12a	A	G	14: 56,386,950 (GRCm38)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,550,021 (GRCm38)	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,418,111 (GRCm38)		noncoding transcript	Het
Cacna2d1	G	A	5: 16,312,568 (GRCm38)	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,741,861 (GRCm38)		silent	Het
Ccdc59	A	T	10: 105,841,527 (GRCm38)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,794,626 (GRCm38)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,645,653 (GRCm38)	T14I	probably benign	Het
Clasrp	C	A	7: 19,585,240 (GRCm38)		probably benign	Het
Csmd2	T	C	4: 128,557,718 (GRCm38)	F113S	unknown	Het
Csmd3	C	T	15: 47,857,924 (GRCm38)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,487,301 (GRCm38)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362 (GRCm38)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,214,774 (GRCm38)	S217L	probably benign	Het
Dhx57	A	T	17: 80,251,376 (GRCm38)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,212,108 (GRCm38)	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,242,586 (GRCm38)	P805S	probably damaging	Het
Eral1	A	G	11: 78,076,278 (GRCm38)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,997,890 (GRCm38)	R481H	probably damaging	Het
Fan1	A	G	7: 64,363,190 (GRCm38)	I668T	probably benign	Het
Gbp11	C	T	5: 105,331,000 (GRCm38)	D191N	probably benign	Het
Gm21759	T	A	5: 8,180,863 (GRCm38)		probably benign	Het
Gm5454	C	A	13: 103,357,523 (GRCm38)		noncoding transcript	Het
Gm9874	A	T	17: 30,485,789 (GRCm38)		probably benign	Het
Gria2	G	A	3: 80,702,492 (GRCm38)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm38)	N334I	probably damaging	Het
Grm5	T	C	7: 87,602,722 (GRCm38)	V60A	possibly damaging	Het
Ift172	C	T	5: 31,257,861 (GRCm38)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,061,039 (GRCm38)		probably null	Het
Kif1c	A	G	11: 70,724,081 (GRCm38)	E567G	probably damaging	Het
Krt31	T	G	11: 100,047,873 (GRCm38)	N298T	possibly damaging	Het
Mapk7	C	A	11: 61,490,212 (GRCm38)		probably benign	Het
Marchf8	C	T	6: 116,401,145 (GRCm38)		probably benign	Het
Matr3	T	A	18: 35,572,296 (GRCm38)	S91R	probably benign	Het
Mdm1	A	G	10: 118,150,942 (GRCm38)	T267A	probably benign	Het
Mlxip	A	G	5: 123,452,667 (GRCm38)	M878V	probably benign	Het
Mtm1	T	C	X: 71,296,362 (GRCm38)		probably benign	Homo
Mtor	T	A	4: 148,540,030 (GRCm38)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,919,348 (GRCm38)	K457R	probably damaging	Het
Nell1	A	T	7: 50,249,657 (GRCm38)		probably benign	Het
Nomo1	C	A	7: 46,046,937 (GRCm38)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,410,861 (GRCm38)	T4P	probably benign	Het
Or6c211	A	T	10: 129,669,759 (GRCm38)	C253*	probably null	Het
Or8k33	T	C	2: 86,553,584 (GRCm38)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,703,508 (GRCm38)	N80S	probably damaging	Het
Otud4	T	A	8: 79,661,073 (GRCm38)	N300K	possibly damaging	Het
Otx1	A	G	11: 21,998,681 (GRCm38)		probably benign	Het
Pcdhb20	A	T	18: 37,505,780 (GRCm38)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,737,471 (GRCm38)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834 (GRCm38)	T372K	probably benign	Het
Plcl1	A	T	1: 55,697,150 (GRCm38)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,107,503 (GRCm38)	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678 (GRCm38)	M1T	probably null	Het
Pold1	C	T	7: 44,543,347 (GRCm38)		silent	Het
Ppp1r7	T	A	1: 93,357,863 (GRCm38)		probably null	Het
Psmb8	T	C	17: 34,200,170 (GRCm38)	I146T	probably damaging	Het
Pzp	A	T	6: 128,485,556 (GRCm38)		probably null	Het
Rel	T	C	11: 23,761,129 (GRCm38)	I13V	probably benign	Het
Reln	C	T	5: 22,049,791 (GRCm38)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,843,612 (GRCm38)	R90G	probably benign	Het
Semp2l2b	A	T	10: 22,067,379 (GRCm38)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm38)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,886,793 (GRCm38)		probably null	Het
Slc5a8	A	G	10: 88,904,963 (GRCm38)	I247V	probably benign	Het
Son	A	G	16: 91,664,317 (GRCm38)		probably null	Het
Spcs2	T	C	7: 99,839,761 (GRCm38)	D240G	probably damaging	Het
St5	A	T	7: 109,557,430 (GRCm38)	Y38N	probably benign	Het
Stx3	A	T	19: 11,789,574 (GRCm38)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,778,628 (GRCm38)		probably benign	Het
Tafa2	A	T	10: 123,704,365 (GRCm38)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,405,317 (GRCm38)	F187S	probably damaging	Het
Thbs1	C	G	2: 118,119,378 (GRCm38)	N611K	probably damaging	Het
Tipin	A	C	9: 64,304,327 (GRCm38)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,638,268 (GRCm38)	D347G	probably benign	Het
Tmem161a	C	T	8: 70,178,915 (GRCm38)		probably benign	Het
Vmn2r68	A	C	7: 85,233,626 (GRCm38)	M306R	probably benign	Het
Vwa7	G	A	17: 35,021,242 (GRCm38)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,370,413 (GRCm38)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,508,078 (GRCm38)	E124D	probably benign	Het
Zzz3	T	A	3: 152,446,844 (GRCm38)		silent	Het

Other mutations in Palmd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Palmd	APN	3	116,927,391 (GRCm38)	splice site	probably benign
IGL01112:Palmd	APN	3	116,924,273 (GRCm38)	missense	probably damaging	1.00
IGL01484:Palmd	APN	3	116,953,145 (GRCm38)	splice site	probably benign
IGL01527:Palmd	APN	3	116,927,188 (GRCm38)	nonsense	probably null
IGL01561:Palmd	APN	3	116,924,093 (GRCm38)	missense	probably damaging	0.99
IGL01975:Palmd	APN	3	116,923,634 (GRCm38)	missense	probably benign	0.24
R0107:Palmd	UTSW	3	116,924,076 (GRCm38)	missense	probably damaging	1.00
R1099:Palmd	UTSW	3	116,923,225 (GRCm38)	missense	possibly damaging	0.71
R1552:Palmd	UTSW	3	116,948,040 (GRCm38)	splice site	probably benign
R1613:Palmd	UTSW	3	116,923,504 (GRCm38)	missense	probably damaging	1.00
R1710:Palmd	UTSW	3	116,923,657 (GRCm38)	missense	probably damaging	1.00
R2090:Palmd	UTSW	3	116,927,434 (GRCm38)	missense	probably damaging	1.00
R2869:Palmd	UTSW	3	116,923,751 (GRCm38)	missense	possibly damaging	0.60
R2869:Palmd	UTSW	3	116,923,751 (GRCm38)	missense	possibly damaging	0.60
R2870:Palmd	UTSW	3	116,923,751 (GRCm38)	missense	possibly damaging	0.60
R2871:Palmd	UTSW	3	116,923,751 (GRCm38)	missense	possibly damaging	0.60
R2871:Palmd	UTSW	3	116,923,751 (GRCm38)	missense	possibly damaging	0.60
R2872:Palmd	UTSW	3	116,923,751 (GRCm38)	missense	possibly damaging	0.60
R2872:Palmd	UTSW	3	116,923,751 (GRCm38)	missense	possibly damaging	0.60
R2873:Palmd	UTSW	3	116,923,751 (GRCm38)	missense	possibly damaging	0.60
R3774:Palmd	UTSW	3	116,927,663 (GRCm38)	missense	probably damaging	1.00
R3981:Palmd	UTSW	3	116,923,823 (GRCm38)	missense	probably benign	0.01
R3982:Palmd	UTSW	3	116,923,823 (GRCm38)	missense	probably benign	0.01
R3983:Palmd	UTSW	3	116,923,823 (GRCm38)	missense	probably benign	0.01
R4955:Palmd	UTSW	3	116,924,224 (GRCm38)	missense	probably damaging	1.00
R5103:Palmd	UTSW	3	116,927,421 (GRCm38)	missense	probably damaging	1.00
R5261:Palmd	UTSW	3	116,923,360 (GRCm38)	missense	probably benign	0.04
R5265:Palmd	UTSW	3	116,923,849 (GRCm38)	missense	possibly damaging	0.67
R5292:Palmd	UTSW	3	116,923,744 (GRCm38)	missense	probably benign	0.00
R5499:Palmd	UTSW	3	116,923,832 (GRCm38)	missense	probably benign	0.01
R5597:Palmd	UTSW	3	116,923,576 (GRCm38)	missense	probably damaging	1.00
R5666:Palmd	UTSW	3	116,924,101 (GRCm38)	missense	possibly damaging	0.55
R5817:Palmd	UTSW	3	116,918,623 (GRCm38)	missense	probably benign	0.01
R6843:Palmd	UTSW	3	116,924,215 (GRCm38)	missense	probably damaging	1.00
R6854:Palmd	UTSW	3	116,923,463 (GRCm38)	missense	probably benign	0.06
R7052:Palmd	UTSW	3	116,923,363 (GRCm38)	missense	probably benign	0.30
R7450:Palmd	UTSW	3	116,927,643 (GRCm38)	missense	probably damaging	1.00
R8876:Palmd	UTSW	3	116,927,250 (GRCm38)	missense	probably damaging	1.00
R9655:Palmd	UTSW	3	116,923,191 (GRCm38)	makesense	probably null
R9681:Palmd	UTSW	3	116,923,471 (GRCm38)	missense	probably benign	0.22
Z1177:Palmd	UTSW	3	116,923,502 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTAGCCTGTCAAAAGCTTC -3'
(R):5'- TCTGCGCACAATATGACCGAC -3'

Sequencing Primer
(F):5'- GTAGCCTGTCAAAAGCTTCTTTTC -3'
(R):5'- AATATGACCGACGGGCTCTCAG -3'

Posted On

2015-02-18